Varaico: Literature-Extracted Genetic Variants

BCL11A

458 papers

RefSeq Summary

This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and m...

Pfam Domains

CCHC_BCL-11Aaa 45–72UCSCBCL-11A-like CCHC zinc finger

zf-C2H2aa 377–399UCSCZinc finger, C2H2 type

zf-C2H2aa 405–427UCSCZinc finger, C2H2 type

zf-C2H2_16aa 736–761UCSCC2H2 zinc finger

zf-C2H2aa 742–764UCSCZinc finger, C2H2 type

zf-C2H2_16aa 770–795UCSCC2H2 zinc finger

Gene Aliases

HGNC Name

BCL11 transcription factor A

HGNC Previous Symbol

EVI9

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022893.4

p.S711S

c.2133G>A

Surrounding Variants

1 paper

NM_022893.4

p.S711L

c.2132C>T

1 paper

NM_022893.4

p.R713L

c.2138G>T

1 paper

NM_001365609.1

p.R679Fs

c.2035_2037delinsCFs

1 paper

NM_022893.4

p.G709W

c.2125G>T

1 paper

NM_022893.4

p.T716T

c.2148G>A

1 paper

NM_022893.4

p.E705Q

c.2113G>C

1 paper

NM_022893.4

p.G719_G720insCT

c.2155_2159ins6

3 papers

NM_022893.4

p.T722M

c.2165C>T

1 paper

NM_022893.4

p.P723_H724del2

c.2167_2171del6

3 papers

NM_022893.4

p.S696S

c.2088T>C

1 paper

NM_022893.4

p.S691F

c.2072C>T

1 paper

NM_022893.4

p.R732insFs

c.2194dupA